TBC1D4 (TBC1 domain family member 4)

2007-02-01  

Identity

HGNC
TBC1D4
LOCATION
13q22.2
LOCUSID
9882
ALIAS
AS160,NIDDM5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9882
MIM: 612465
HGNC: 19165
Ensembl: ENSG00000136111

Variants:

dbSNP: 9882
ClinVar: 9882
TCGA: ENSG00000136111
COSMIC: TBC1D4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136111ENST00000377625O60343
ENSG00000136111ENST00000377636O60343
ENSG00000136111ENST00000413735Q5JU47
ENSG00000136111ENST00000431480O60343
ENSG00000136111ENST00000648194A0A3B3IRT3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Thyroid hormone signaling pathwayKEGGhsa04919
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Translocation of GLUT4 to the plasma membraneREACTOMER-HSA-1445148
Insulin resistanceKEGGhsa04931

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
159719982005AS160, the Akt substrate regulating GLUT4 translocation, has a functional Rab GTPase-activating protein domain.127
250430222014A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes.100
159197902005Insulin-stimulated phosphorylation of the Akt substrate AS160 is impaired in skeletal muscle of type 2 diabetic subjects.75
176170582007Regulation of multisite phosphorylation and 14-3-3 binding of AS160 in response to IGF-1, EGF, PMA and AICAR.64
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
175137022007Effects of endurance exercise training on insulin signaling in human skeletal muscle: interactions at the level of phosphatidylinositol 3-kinase, Akt, and AS160.49
192528942009Potential role of TBC1D4 in enhanced post-exercise insulin action in human skeletal muscle.44
170773442007AS160 phosphorylation is associated with activation of alpha2beta2gamma1- but not alpha2beta2gamma3-AMPK trimeric complex in skeletal muscle during exercise in humans.42
199234182010Identification of a novel phosphorylation site on TBC1D4 regulated by AMP-activated protein kinase in skeletal muscle.38
179779502008Impaired insulin-stimulated phosphorylation of Akt and AS160 in skeletal muscle of women with polycystic ovary syndrome is reversed by pioglitazone treatment.37

Citation

Dessen P

TBC1D4 (TBC1 domain family member 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45678/tbc1d4